Works matching IS 10184813 AND DT 2002 AND VI 10 AND IP 6

Results: 9

A cautionary note: false homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 6, p. 395, doi. 10.1038/sj.ejhg.5200821
By:
- Solano, Angela R.;
- Dourisboure, Ricardo J.;
- Weitzel, Jeffrey;
- Podesta, Ernesto J.
Publication type:
Article
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 6, p. 391, doi. 10.1038/sj.ejhg.5200813
By:
- Medlej-Hashim, Myrna;
- Mustapha, Mirna;
- Chouery, Eliane;
- Weil, Dominique;
- Parronaud, Joel;
- Salem, Nabiha;
- Delague, Valerie;
- Loiselet, Jacques;
- Lathrop, Mark;
- Petit, Christine;
- Megarbane, Andre
Publication type:
Article
C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 6, p. 388, doi. 10.1038/sj.ejhg.5200819
By:
- Stuppia, Liborio;
- Gatta, Valentina;
- Gaspari, Anna Rita;
- Antonucci, Ivana;
- Morizio, Elisena;
- Calabrese, Giuseppe;
- Palka, Giandomenico
Publication type:
Article
Linkage disequilibrium and demographic history of the isolated population of the Faroe Islands.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 6, p. 381, doi. 10.1038/sj.ejhg.5200816
By:
- Jorgensen, Trove H.;
- Degn, Birte;
- Wang, August G.;
- Vang, Maria;
- Gurling, Hugh;
- Kalsi, Gursharan;
- McQuillin, Andrew;
- Kruse, Torben A.;
- Mors, Ole;
- Ewald, Henrik
Publication type:
Article
Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 6, p. 375, doi. 10.1038/sj.ejhg.5200817
By:
- Eerola, Iiro;
- Boon, Laurence M.;
- Watanabe, Shoji;
- Grynberg, Henri;
- Mulliken, John B.;
- Vikkula, Miikka
Publication type:
Article
Segregation analysis of HDL cholesterol in the NHLBI Family Heart Study and in Utah pedigrees.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 6, p. 367, doi. 10.1038/sj.ejhg.5200818
By:
- Kronenberg, Florian;
- Coon, Hilary;
- Ellison, R. Curtis;
- Borecki, Ingrid;
- Arnett, Donna K.;
- Province, Michael A.;
- Eckfeldt, John H.;
- Hopkins, Paul N.;
- Hunt, Steven C.
Publication type:
Article
Chromosome analysis of epididymal and testicular spermatozoa in patients with azoospermia.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 6, p. 362, doi. 10.1038/sj.ejhg.5200814
By:
- Burrello, Nunziatina;
- Calogero, Aldo E.;
- De Palma, Adele;
- Grazioso, Caterina;
- Torrisi, Carlo;
- Barone, Nunziata;
- Pafumi, Carlo;
- D'Agata, Rosario;
- Vicari, Enzo
Publication type:
Article
The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 6, p. 351, doi. 10.1038/sj.ejhg.5200812
By:
- Duba, Hans-Christoph;
- Doll, Andreas;
- Neyer, Michael;
- Erdel, Martin;
- Mann, Christian;
- Hammerer, Ignaz;
- Utermann, Gerd;
- Grzeschik, Karl-Heinz
Publication type:
Article
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 6, p. 339, doi. 10.1038/sj.ejhg.5200831
By:
- Adato, Avital;
- Vreugde, Sarah;
- Joensuu, Tarja;
- Avidan, Nili;
- Hamalainen, Riikka;
- Belenkiy, Olga;
- Olender, Tsviya;
- Bonne-Tamir, Batsheva;
- Ben-Asher, Edna;
- Espinos, Carmen;
- Millan, Jose M.;
- Lehesjoki, Anna-Elina;
- Flannery, John G.;
- Avraham, Karen B.;
- Pietrokovski, Shmuel;
- Sankila, Eeva-Marja;
- Beckmann, Jacques S.;
- Lancet, Doron
Publication type:
Article